Department of General Surgery and Surgical-Medical Specialties, School of Dentistry, University of Catania, AOU "Policlinico-San Marco", Via S. Sofia 78, 95124 Catania, Italy.
Department of Life, Health, & Environmental Sciences, Postgraduate School of Orthodontics, University of L'Aquila, P.le Salvatore Tommasi 1, Ed. Delta 6, 67100 L'Aquila, Italy.
Biomed Res Int. 2022 May 31;2022:6493156. doi: 10.1155/2022/6493156. eCollection 2022.
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. There are four major classical heritable EB types, due to mutations in as many as 20 distinct genes: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). This study is aimed at reporting case series on patients ( = 8; males, = 5 and females, = 3, age range 12-68 years) affected by EB and performs a review of the literature on this topic. This group of disorders can affect oral soft and hard tissues in various ways, resulting in various effects including enamel hypoplasia, dental caries, microstomia, ankyloglossia, oral blistering, and ulcerations early-onset periodontal disease. From the sample results, it can be concluded that the clinical manifestation of EB patients is highly variable and very different in prognosis. Oral health deeply influences the quality of life of EB patients. Dental management is essential to prevent the aggravation of soft tissue damage and tooth loss and to improve the quality of life through prosthetic and restorative therapies. Dentists should consider the oral alterations of EB subtypes to perform a personalized approach to the patients' needs in a preventive and therapeutic point of view.
大疱性表皮松解症（EB）是一组皮肤疾病，其特征为皮肤脆弱，在轻微机械创伤下即可发生水疱，且在表皮与真皮交界处破裂。有四种主要的遗传性 EB 类型，是由多达 20 个不同基因的突变引起的：单纯型 EB（EBS）、交界型 EB（JEB）、营养不良型 EB（DEB）和 Kindler EB（KEB）。本研究旨在报告一组 EB 患者的病例系列（男性=5 例，女性=3 例，年龄范围为 12-68 岁），并对该主题的文献进行回顾。这组疾病可以以各种方式影响口腔软硬组织，导致各种影响，包括釉质发育不全、龋齿、小口畸形、舌系带短、口腔水疱和溃疡、早发性牙周病。从样本结果可以得出结论，EB 患者的临床表现高度多变，预后差异很大。口腔健康深深地影响着 EB 患者的生活质量。牙科管理对于预防软组织损伤和牙齿缺失的恶化以及通过修复和修复治疗来提高生活质量至关重要。牙医应考虑 EB 亚型的口腔改变，从预防和治疗的角度出发，对患者的需求进行个性化治疗。
